Canonical Allele Identifier: CA658799386
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 543523
ClinVar RCV Id: RCV000654306

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350732_63350733delinsTG , CM000682.2:g.63350732_63350733delinsTG GRCh38
NC_000020.10:g.61982084_61982085delinsTG , CM000682.1:g.61982084_61982085delinsTG GRCh37
NC_000020.9:g.61452528_61452529delinsTG NCBI36
NG_011931.1:g.15611_15612delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000370263.9:c.678_679delinsCA MANE Select ENSP00000359285.4:p.Ala227Thr
ENST00000370263.8:c.678_679delinsCA ENSP00000359285.4:p.Ala227Thr
ENST00000463705.5:n.1326_1327delinsCA
ENST00000467563.3:n.748_749delinsCA
ENST00000498043.6:c.702_703delinsCA
ENST00000615287.4:c.465_466delinsCA ENSP00000483388.1:p.Ala156Thr
ENST00000627000.1:c.*367_*368delinsCA ENSP00000486914.1:n.*367_*368delinsCA
ENST00000630240.1:n.399_400delinsCA
NM_000744.6:c.678_679delinsCA NP_000735.1:p.Ala227Thr
NM_001256573.1:c.150_151delinsCA NP_001243502.1:p.Ala51Thr
NR_046317.1:n.934_935delinsCA
XM_011528524.1:c.465_466delinsCA XP_011526826.1:p.Ala156Thr
XM_017027625.2:c.150_151delinsCA XP_016883114.1:p.Ala51Thr
XM_024451822.1:c.150_151delinsCA XP_024307590.1:p.Ala51Thr
NM_001256573.2:c.150_151delinsCA NP_001243502.1:p.Ala51Thr
NR_046317.2:n.887_888delinsCA
NM_000744.7:c.678_679delinsCA MANE Select NP_000735.1:p.Ala227Thr